Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		0.100 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017